نتایج جستجو برای: wiskott

تعداد نتایج: 1772  

Journal: :Medico e bambino pagine elettroniche 2023

The Authors described the case of a 2-year-old child presenting with typical clinical features MIS-C finally diagnosed as Wiskott-Aldrich immunodeficiency.

Journal: :iranian journal of allergy, asthma and immunology 0
sepideh safaei immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran mohammad reza fazlollahi immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran masoud houshmand national institute of genetic engineering biotechnology tehran, iran amir ali hamidieh hematology oncology & stem cell transplantation research center, tehran university of medical sciences, tehran, iran mohammad hassan bemanian department of pediatrics , division of allergy and clinical immunology, shahid sadoghi hospital, shahid sadoghi university of medical sciences, yazd, iran samin alavi department of pediatric hematology-oncology, mofid children's hospital, shahid beheshti university of medical sciences, tehran, iran

wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia,  eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia  (xlt) that  presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...

Journal: :The New England journal of medicine 2006
Vera Binder Michael H Albert Maria Kabus Marko Bertone Alfons Meindl Bernd H Belohradsky

The Wiskott-Aldrich syndrome is an X-linked hereditary disorder associated with combined immunodeficiency, thrombocytopenia, small platelets, eczema, and increased susceptibility to autoimmune disorders and cancers. It is caused by mutations in the gene (WAS) for the Wiskott-Aldrich syndrome protein (WASP). We investigated family members of the patients originally described by Wiskott in 1937 a...

Journal: :Haematologica 2012
Lee Macpherson James Monypenny Michael P Blundell Giles O Cory Jessica Tomé-García Adrian J Thrasher Gareth E Jones Yolanda Calle

Podosomes are actin-based adhesions involved in migration of cells that have to cross tissue boundaries such as myeloid cells. The Wiskott Aldrich Syndrome Protein regulates de novo actin polymerization during podosome formation and it is cleaved by the protease calpain during podosome disassembly. The mechanisms that may induce the Wiskott Aldrich Syndrome Protein cleavage by calpain remain un...

Kamleshun Ramphul, Sunjaye Ramjuttun Vinita Poorun

Wiskott-Aldrich is an X-lined recessive disorder typically characterized by thrombocytopenia, eczema and recurrent infections. We report the four year treatment progress of a six year old boy who initially presented with vesicular lesions over the trunk, upper and lower extremities and face and blood tinged stools at the age of 2 weeks. From the family pedigree, there were two suspected cases t...

Journal: :Haematologica 2011
Ronan Calvez Fanny Lafouresse Julie De Meester Anne Galy Salvatore Valitutti Loïc Dupré

BACKGROUND T-cell activation relies on the assembly of the immunological synapse, a structure tightly regulated by the actin cytoskeleton. The precise role of the Wiskott-Aldrich syndrome protein, an actin cytoskeleton regulator, in linking immunological synapse structure to downstream signaling remains to be clarified. DESIGN AND METHODS To address this point, CD4(+) T cells from patients wi...

2018
Ryota Kaneko Shohei Yamamoto Naoko Okamoto Kosuke Akiyama Ryosuke Matsuno Daisuke Toyama Akihiro Hoshino Kohsuke Imai Keiichi Isoyama

Wiskott-Aldrich syndrome is a rare X-linked recessive disease resulting from variations in the WAS gene. Wiskott-Aldrich syndrome is sometimes difficult to differentiate from immune thrombocytopenic purpura. A 2-month-old boy was admitted to our hospital for purpura and thrombocytopenia. His mean platelet volume was reported to be normal. Treatment with intravenous immunoglobulins failed to imp...

Journal: :international journal of pediatrics 0
kamleshun ramphul department of pediatrics, shanghai xin hua hospital affiliated to the shanghai jiao tong university school of medicine, china. sunjaye ramjuttun department of pediatrics, sir seewoosagur ramgoolam national hospital, mauritius, china. vinita poorun department of pediatrics, sir seewoosagur ramgoolam national hospital, mauritius, china.

wiskott-aldrich is an x-lined recessive disorder typically characterized by thrombocytopenia, eczema and recurrent infections. we report the four year treatment progress of a six year old boy who initially presented with vesicular lesions over the trunk, upper and lower extremities and face and blood tinged stools at the age of 2 weeks. from the family pedigree, there were two suspected cases t...

Journal: :Archives of Disease in Childhood 1967

Journal: :Iranian journal of allergy, asthma, and immunology 2012
Sepideh Safaei Mohammad Reza Fazlollahi Masoud Houshmand Amir Ali Hamidieh Mohammad Hassan Bemanian Samin Alavi Farideh Mousavi Zahra Pourpak Mostafa Moin

Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich...

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